Canonical Allele Identifier: CA452231802

Gene: PEX7

Linked Data

• ClinVar Variation Id: 1627666
• ClinVar RCV Id: RCV002114249
• dbSNP Id: rs2115273033
• MyVariant Identifiers: chr6:g.137219331T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898193T>C , CM000668.2:g.136898193T>C	GRCh38
NC_000006.11:g.137219331T>C , CM000668.1:g.137219331T>C	GRCh37
NC_000006.10:g.137261024T>C	NCBI36
NG_008462.1:g.80614T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.855T>C MANE Select	ENSP00000315680.3:p.His285=
ENST00000541292.6:c.*120T>C	ENSP00000441004.1:n.*120T>C
ENST00000678002.1:c.543T>C
ENST00000678557.1:c.741T>C	ENSP00000502962.1:p.His247=
ENST00000679286.1:c.735T>C	ENSP00000503168.1:p.His245=
ENST00000318471.4:c.855T>C	ENSP00000315680.3:p.His285=
NM_000288.3:c.855T>C	NP_000279.1:p.His285=
XM_005267019.3:c.741T>C	XP_005267076.1:p.His247=
XM_006715502.1:c.561T>C	XP_006715565.1:p.His187=
XM_011535900.1:c.578T>C	XP_011534202.1:p.Ile193Thr
XM_005267019.4:c.741T>C	XP_005267076.1:p.His247=
XM_006715502.2:c.561T>C	XP_006715565.1:p.His187=
XM_017010934.2:c.578T>C	XP_016866423.1:p.Ile193Thr
NM_000288.4:c.855T>C MANE Select	NP_000279.1:p.His285=